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CERKL ceramide kinase like

Gene ID: 375298, updated on 5-Mar-2024
Gene type: protein coding
Also known as: RP26


This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]

Associated conditions

See all available tests in GTR for this gene

Gene network analysis in a pediatric cohort identifies novel lung function genes.
GeneReviews: Not available
Multiple loci are associated with white blood cell phenotypes.
GeneReviews: Not available
Retinitis pigmentosa 26See labs
Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
GeneReviews: Not available

Genomic context

Chromosome: 2; NC_000002.12 (181536672..181657105, complement)
Total number of exons:


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